Variant report

Variant	esv2474620
Chromosome Location	chr8:4591021-4592396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542605440	chr8:4591027-4591028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139064669	chr8:4591033-4591034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565364389	chr8:4591036-4591037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190709423	chr8:4591051-4591052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370552029	chr8:4591055-4591056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149885703	chr8:4591057-4591058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs293890	chr8:4591064-4591065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551218688	chr8:4591087-4591088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143942667	chr8:4591099-4591100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541371385	chr8:4591110-4591111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559666288	chr8:4591127-4591128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565111700	chr8:4591129-4591130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148648022	chr8:4591137-4591138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181569211	chr8:4591149-4591150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564615658	chr8:4591162-4591163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13257013	chr8:4591177-4591178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs547641222	chr8:4591183-4591184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370262495	chr8:4591184-4591185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543887432	chr8:4591204-4591205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567621167	chr8:4591213-4591214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373819378	chr8:4591214-4591215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534530737	chr8:4591244-4591245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565997958	chr8:4591255-4591256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536588658	chr8:4591256-4591257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532774026	chr8:4591258-4591259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550914594	chr8:4591276-4591277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569631266	chr8:4591286-4591287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536788016	chr8:4591324-4591325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550138092	chr8:4591326-4591327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555426215	chr8:4591347-4591348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368762856	chr8:4591358-4591359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567378333	chr8:4591360-4591361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370045933	chr8:4591363-4591364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73661103	chr8:4591386-4591387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376781552	chr8:4591398-4591399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569983967	chr8:4591400-4591401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527788823	chr8:4591425-4591426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577970876	chr8:4591440-4591441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539101657	chr8:4591447-4591448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556110610	chr8:4591466-4591467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557904970	chr8:4591480-4591481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147706874	chr8:4591497-4591498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543578102	chr8:4591511-4591512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562184053	chr8:4591530-4591531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186700104	chr8:4591543-4591544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191602990	chr8:4591585-4591586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375043792	chr8:4591588-4591589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182880255	chr8:4591627-4591628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552043058	chr8:4591648-4591649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142549378	chr8:4591662-4591663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4587800-4592600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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